Endocrine Abstracts

Familial Hypocalciuric Hypercalcaemia (FHH), originally described in 1966, was first linked to mutations in the Calcium-Sensing Receptor (CaSR) gene in 1993. FHH results from inactivating mutations affecting a single allele inherited in an autosomal dominant pattern. The calcium-sensing receptor is a cell surface-expressed G protein-coupled receptor with 1078 amino acids. Gene mutations are usually single-point in nature and result in an elevated set point for calcium sensing ...

Large corticotroph adenomas are uncommon pituitary mass lesions, representing around 10% of cases of Cushing's disease, and are often found to be locally invasive. 'Silent' corticotrophinomas stain for ACTH, but do not secrete sufficient ACTH to cause Cushing's disease. We describe a patient with an unusual mass presentation of a pituitary adenoma in whom there was also a marked discrepancy between the clinical and laboratory findings in the assessment of suspected Cushing's d...

We report two patients (AB 41 years, LS 55 years) presenting with symptoms of hyperprolactinaemia. Prolactin levels were moderately elevated: 1539 (AB), 1186 (LS) (NR 59-619 mU/L). The remainder of the pituitary profile was normal. Neither patient had visual field defects. MRIs (without contrast) reported pituitary macroadenoma with suprasellar extension but no optic chiasm compression. The initial diagnosis was of probable non-functioning adenoma causing stalk compression. Bo...

A 32 year old man with a history of epilepsy since childhood presented in 1992 with a grand mal seizure and clinical features of tuberous sclerosis (TSC). One year later he was referred with classical Cushingoid features. His serum Na was 140 mmol/l, K 3.4 mmol/l, 9 AM cortisol 1018 nmol/l with lack of diurnal variation and ACTH 42-50 ng/l. Urinary cortisol: 797 nmol/24 h. After overnight, low and high dose dexamethasone suppression, cortisol was 1018, 1154, and 62 nmol/l resp...